Damaged goods?: an empirical cohort study of blood ...

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Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California : Genetics in Medicine : Springer Nature

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GENETICS IN MEDICINE | ORIGINAL RESEARCH ARTICLE

Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California Hao Tang PhD, Lisa Feuchtbaum DrPH, MPH, Partha Neogi PhD, Thomson Ho PhD, Leslie Gaffney BS & Robert J. Currier PhD Genetics in Medicine (2016) 18, 259–264 doi:10.1038/gim.2015.154 Received 17 April 2015 Accepted 14 September 2015 Published online 10 December 2015

Abstract

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Purpose: The current Clinical and Laboratory Standards Institute standard recommends blood collection from 24 to 48 hours after birth for newborn genetic disorder screening. We used California populationlevel data to determine whether early specimens (collected from 12 to 23 hours) would also be considered satisfactory based on screening performance.

Methods: Screening data from California Genetic Disease Screening Program were analyzed for falsenegative and falsepositive rates in four disease categories: metabolic disorders detectable by tandem mass spectrometry (MS/MS); congenital adrenal hyperplasia (CAH); congenital hypothyroidism (CH); and initial immune reactive trypsinogen (IRT) for cystic fibrosis (CF). We compared the rates between the earlycollection group (12 to 23 hours) and the standardcollection group (24 to 48 hours).

Results: No significant difference of falsenegative rate was detected between the two collectiontiming groups. Early specimens had a significantly higher false positive rate for CH (0.10 vs. 0.01%) and IRT (1.85 vs. 1.54%) but a lower falsepositive rate for MSMS metabolic disorders (0.11 vs. 0.18%) and CAH (0.10 vs. 0.14%).

Conclusion: Newborn specimens collected after 12 hours provided satisfactory screening performance. A policy allowing earlier collection could improve timeliness of reporting screening results. Genet Med 18 3, 259–264. http://www.nature.com/gim/journal/v18/n3/full/gim2015154a.html

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Keywords: early blood specimen collection; newborn screening; sensitivity; specificity; timeliness of newborn screening We use cookies to improve your experience with our site. Accept and close | More info.

Introduction The Clinical and Laboratory Standards Institute (CLSI) standard regarding the timing of newborn blood collection on filter paper for genetic disease screening has been at least 24 hours after birth, preferably within 24 to 48 hours.1,2 This suggested timing of specimen collection is based on newborns’ maturation progression, especially the stability of endocrine and metabolic systems, as well as empirical screeningperformance reviews from newborn screening programs. As a result, most state newborn screening programs specify specimen collection timing between 24 and 48 hours after birth; this is sometimes included in regulations or statute.3,4,5 There are also state programs that consider specimens collected before 24 hours of age as unsatisfactory and require a repeat blood draw.6,7,8 As one of the largest newborn screening programs in the world, the Genetic Disease Screening Program (GDSP) of California Department of Public Health is the only state program that recommends newborns be at least 12 hours old before blood is collected.9 This timing recommendation has been in effect since 1996, when the validity of tandem mass spectrometry screening results was demonstrated in specimens collected in the first 24 hours of life and was further supported by the proceedings of a 1995 conference on early hospital discharge and impact on newborn screening.10,11 The improvement of specimen collection timeliness has become an emerging issue for state newborn screening programs and has garnered the focus of media scrutiny.12 The recently enacted Newborn Screening Saves Lives Reauthorization Act of 2014 has also elevated this as a national issue.13 Early specimen collection could contribute to improving the timeliness of specimen processing nationwide and, more importantly, could expedite release of urgent positive results to practitioners. Historically, there are two major concerns about collecting blood specimens before 24 hours after birth. One is the potential increase of false positives (normal screening results reported as positive results) caused by surging endocrine (especially thyroidstimulating hormone levels) and metabolic imbalances as the result of underdeveloped biological systems and/or birth stress—an effect that is exaggerated in premature or sick babies.14,15,16,17,18 The increase of false positives is associated with perceived increased burden on parents/families and the healthcare system. The other concern is the potential increase of false negatives (true cases reported as negative screening results).19,20 The primary concern is with disorders of amino acid metabolism, where early collection could mean that the newborn’s metabolism has not been functioning independently for long enough for the metabolic disorder to be evident from the values measured in the newborn screening specimen. An increase of both falsepositive and falsenegative rates could have adverse impact on newborn screening performance and the wellbeing of newborns and their families. Few published studies have examined the efficacy and efficiency of newborn screening conducted on blood specimens collected when the newborn is less than 24 hours old.10,18,19,21 To understand the impact of early blood collection in newborn screening, we studied falsenegative and falsepositive rates in GDSP’s blood specimens collected from 12 to 23 hours of age in comparison to the specimens collected from 24 to 48 hours of age. To our knowledge, this is the first study on specimens collected between 12 and 23 hours of age conducted at a population level. The validation of the early collection policy will provide evidence that could support a more flexible blood collection standard that is valuable to state newborn screening programs facing mounting financial and healthcare challenges such as repeat test fees and early postpartum discharge.

Materials and Methods Data source http://www.nature.com/gim/journal/v18/n3/full/gim2015154a.html

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We analyzed screening data from the California GDSP on four types of genetic diseases: metabolic disorders detectable by tandem mass spectrometry We use cookies to improve your experience with our site. Accept and close | More info.

(MS/MS); congenital adrenal hyperplasia (CAH); congenital hypothyroidism (CH); and cystic fibrosis (CF). Dried blood spot specimens using the heel stick procedure are collected and handled according to the CLSI guidelines with the exception that the time of blood collection can be as early as 12 hours after birth.1 GDSP currently screens for 48 metabolic disorders (fatty acid oxidation disorders, organic acid disorders, and amino acid disorders including urea cycle disorders) with MS/MS. CAH screening consists of two tiers. The first tier is screened with an immunofluorescence assay that measures 17hydroxyprogesterone (17OHP) levels with different cutoff ranges corresponding to different birth weight ranges. Newborns with highly elevated results are reported as positive and referred to a stateapproved endocrine center for diagnostic evaluation. If a specimen’s 17OHP value is moderately elevated but not high enough for immediate reporting (classified as “questionable”), then a second tier test will be performed on the specimen using MS/MS that measures 17OHP, androstenedione, and cortisol to determine the positive status. CH screening is also conducted with immunofluorescence assay on thyroidstimulating hormone levels. GDSP also uses a multitier method to screen for CF. After a specimen’s immunoreactive trypsinogen (IRT) assay (using immunofluorescence assay) is found elevated, it is further tested using the California cystic fibrosis transmembrane conductance regulator mutation panel.22 A specimen with only one mutation identified on the California cystic fibrosis transmembrane conductance regulator mutation panel is then sent for cystic fibrosis transmembrane conductance regulator gene sequencing. For all the conditions tested, newborns with positive results are referred to a regional specialtycare followup center that coordinates the confirmatory diagnosis process; if a condition is confirmed, then the center provides ongoing clinical care for patients. All testing and demographic data associated with the specimen are stored in GDSP’s webbased Screening Information System, which enables GDSP staff to extract and query the data through an SQLbased data management system. As a state mandate, all clinically confirmed genetic disorders must be reported to the Newborn Screening Registry maintained by the GDSP. These reports are collected from pediatricians, newborn screening coordinators, and clinicians at the specialtycare centers mentioned above for the various categories of screened disorders.23 We used confirmed registry cases from 2006 to 2013 along with timing of blood specimen collection data in the Screening Information System for the falsenegative analysis. (The only exception is the data from CF screening, which have been available since July 2007.) A confirmed case identified as “missed by newborn screening” in the registry was defined as false negative. Although varying depending on the type of condition, the process of confirming a diagnosis after a case is referred to the appropriate specialtycare followup center is similar for all cases. For the falsepositive analysis, we used initial screening interpretation results (positive or negative) and final resolution results (disease or no disease) to determine falsepositive status and true negative status of the newborns. Although we analyzed initial IRT positive results for CF screening in the current study, it should be noted that specimens with elevated IRT were not called out as positive to the primarycare provider and were further tested with the California cystic fibrosis transmembrane conductance regulator mutation panel as mentioned above and are not counted as false positives.22 Only 1 year of initial screening data (2013) was used for falsepositive analysis because it provided sufficient power to detect significant differences between two collectiontiming groups based on sample size calculation prior to the final data analysis. During the study period, some analyte cutoffs were modified as the result of adjustment to different testing kits and laboratory methods.

Statistical analysis The focus of the study was to examine whether there were significant differences between early collection (12 to 23 hours after birth) and standard collection (24 to 48 hours) on falsenegative and falsepositive rates. Cases missed by newborn screening and cases detected through newborn screening were crosstabulated by two collectiontiming groups (early collection and standard collection). For falsepositive analysis, we crosstabulated the number of false positives for the initial screening test and all nondisease specimens (false positives plus true negatives) by collectiontiming groups. To illustrate how GDSP takes prematurity into consideration when testing 17OHP, we further analyzed CAH screeningperformance difference http://www.nature.com/gim/journal/v18/n3/full/gim2015154a.html

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between early and standardcollection groups by birth weight group. As mentioned, each birth weight group has its corresponding 17OHP cutoffs. We use cookies to improve your experience with our site. Accept and close | More info.

(Lowerbirthweight groups have significantly higher cutoffs.) Specimens collected before 12 or after 48 hours of age were excluded from the analysis. We performed χ2 tests to detect significances of difference for frequency distributions between categories. All twotailed P values of 0.05 or less were considered statistically significant. For falsenegative comparison, Fisher’s exact test was used to detect significance while taking small sample sizes into consideration. All data queries were conducted as of January 2015 through Microsoft’s SQL Server 2008 R2 (Redmond, WA), and all analyses were performed with SAS/STAT software version 9.3 of SAS system for Windows (SAS Institute, Cary, NC).

Results In 2013, GDSP collected 488,681 initial newborn blood specimens. More than twothirds of blood specimens were collected (68.08%) between 24 and 48 hours after birth. There were 106,390 newborns with specimens collected from 12 to 23 hours (21.77%; Table 1). Table 1: Newborn screening count by age at collection in 2013 (N = 488,681) From 2006 to 2013, the Newborn Screening Registry, maintained by GDSP, recorded a total of 4,228 confirmed cases among newborns whose blood specimens were collected either from 12 to 23 hours or from 24 to 48 hours after birth. Overall, as shown in Table 2, a very small percentage of confirmed cases were missed by newborn screening (1.09% in the earlycollection group and 1.74% in the standardcollection group). The only condition with a relatively high falsenegative rate in our study population was CAH (2 cases in the earlycollection group, 4.55%, and 10 cases in the standardcollection group, 6.45%). For all cases that were not detected through the newborn screening, there were no significant differences between the two blood collectiontime groups. Most missed cases (7 of 11) of metabolic disorders detectable by MS/MS were urea cycle disorders, due primarily to the absence of low citrulline cutoff and arginosuccinic acid from the MS/MS panel. There were no significant differences between the two age collection groups for urea cycle disorders (data not shown). Table 2: Newborn screening falsenegative rates by genetic conditions by age at specimen collection, 2006–2013 (n = 4,228) Statistically significant differences between blood collectiontime groups were found in falsepositive analysis for each of the disorder categories. Table 3 illustrates that, compared with the standardcollection group, specimens collected between 12 and 23 hours of age had a significantly higher false positive rate for CH (0.10 vs. 0.01%) and a moderately higher percentage of elevation for IRT (1.85 vs. 1.54%). By contrast, the earlycollection group had a lower falsepositive rate for the combined group of metabolic disorders detectable by MS/MS (0.11 vs. 0.18%). For MS/MS disorders, false positive rates were significantly lower in the earlycollection group for amino acid and fatty acid oxidization disorders. The rates were similar for the organic acid disorders (P = 0.46), whereas the falsepositive rates were higher in the earlycollection group for the urea cycle disorders (P = 0.02). Table 3: Newborn screening false positives by genetic conditions and age at specimen collection, 2013 For CAH, falsepositive rates are higher in the lowerbirthweight groups, regardless of the timing of collection. For the group with birth weight less than 2,500 g (representing 71% of all false positives), the falsepositive rate was lower in the earlycollection group (Table 4). Only for the birth weight group http://www.nature.com/gim/journal/v18/n3/full/gim2015154a.html

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more than 2,500 g was the falsepositive rate higher in the earlycollection group.


Table 4: CAH false positives by birth weight and age at specimen collection, 2013

Discussion Newborn screening programs have traditionally used a standard 24 to 48hour time frame for collecting newborn specimens. However, our analysis shows that specimens collected between 12 and 23 hours of age in California performed similarly in general compared with specimens collected between 24 and 48 hours, with a few manageable exceptions. Although the limited number of false negatives could not provide a stronger statistical inference, they did indicate that earlier specimen collections (within 12 to 23 hours of age) did not yield more missed cases by newborn screening for all the analyzed disease categories. This finding suggests that specimens collected after 12 hours but before 24 hours of age are at least as effective as specimens collected from 24 to 48 hours after birth. Based on 2013 California GDSP data, earlier specimen collection does generate 96 extra CH falsepositive specimens, balanced against 74 fewer MS/MSpositive specimens and 42 fewer CAHpositive specimens. For the initial CH positives, the followup regimen is relatively less burdensome for families because the retesting of serum thyroidstimulating hormone and free T4 is often conducted by the primarycare provider and the families do not have to travel to the regional specialtycare center for followup services. By contrast, the earlier collection policy actually reduced the number of MS/MS positive newborns who require a more complicated followup regimen. For CAH, 71% of the overall false positives occurred in birth weight groups less than 2,500 g, where the falsepositive rate for early collection was lower. Thus, the burden of increased initial false positives for CH needs to be balanced against the reduced false positives for metabolic disorders and CAH. For CF screening, an increase in the number of IRT elevations leads to an increase of CF mutation panels run, which adds to the workload of the state laboratory and overall newborn screening cost. However, in California, the vast majority of specimens with initial elevated IRT were never called out as positives following the mutation panel analysis, so there was minimum burden of followup on the physicians and families. Other programs using IRT alone as a CF screening marker could expect additional false positives and associated followup burden in the earlycollection group. Evaluations of both falsenegative and falsepositive rates are complex issues that involve multiple factors extending beyond the timing of specimen collection. For example, sensitivity of 17OHP testing could be low in a moderate (less severe) form of CAH or among newborns whose mothers used corticosteroids during pregnancy or in the neonatal period (thus suppressing adrenal function), resulting in a relatively high percentage of false negatives among all diagnosed cases for CAH.24,25 Some evidence also suggested that missed cases were almost inevitable for some inherited metabolic diseases despite the best effort of newborn screening.26 In our analysis, we observed that newborns tested in neonatal intensive care units (NICUs) were the main factor linked to the higher falsepositive occurrence for CAH (data not shown), a possible combined effect of prematurity and other health conditions. This relationship contributed to the higher positive rates in the 24–48hours group, as the percentage of infants tested in NICUs was significantly higher in this group. Future research using both populationlevel data and other clinical information may identify other factors that can improve screening performance. The current study used multiple years of data from a state program to demonstrate that, overall, earlier blood collection timing (after 12 hours of age) is reliable and efficient at a population level. The specificity and sensitivity of the screening performance did not show alarming differences between the earlier blood collection group and the standard 24–48hours group. The present study is the first largescale populationbased investigation to report the validity and efficiency of using dried blood spots collected from 12 to 23 hours after birth for newborn screening. An early study by Coody et al.27 questioned the efficacy of newborn screening specimens collected http://www.nature.com/gim/journal/v18/n3/full/gim2015154a.html

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before 24 hours in response to the dramatic increase in early hospital discharge before 24 hours that began in the 1970s and accelerated during the We use cookies to improve your experience with our site. Accept and close | More info.

first half of the 1990s.28,29 Other published studies focused on the impact of early hospital discharge (before 24 hours) on adverse newborn outcomes among healthy newborns compared with latepreterm newborns.30,31,32 In 1996, the Newborns’ and Mothers’ Health Protection Act was passed and mandated that health insurance must cover hospital stays through 48 hours after vaginal delivery. Despite this legislation, early discharge is still common, and in California slightly more than 20% of our specimens are collected from 12 to 23 hours.33 Thus, the validity of newborn screening specimens collected before 24 hours is still an important issue today. By allowing blood specimen collection at 12 to 23 hours after birth, state newborn screening programs can benefit through timely release of urgent positives. The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) of the US Department of Health and Human Services (HHS) currently recommends “presumptive positive results for timecritical conditions should be immediately reported to the child’s healthcare provider but no later than the fifth day of life.”34 An earlier blood collection policy could lead to earlier transport to the laboratory and testing, and thus could help state programs reach the recommended timeliness goal. Ideally, our study should examine only the conditions known to be associated with timing of the blood collection. The nature of the data (having only a very small number of falsenegative cases) as well as the lack of definitive knowledge on the relationship between blood collection timing and screening outcomes limited our methodologies. A wellcontrolled experimental design could minimize the effect of other factors on screening performance. Using statistical modeling to control for demographic and other birthrelated factors such as gender, race/ethnicity, nursery type, and cutoff changes could be useful to further analyze screening performance once a large number of falsenegative samples are available. A potential challenge facing the implementation of early blood collection is how to establish appropriate protocols for premature and/or sick newborns in NICUs. Many factors common in NICUs such as prematurity, transfusion, the use of total parenteral nutrition, and carnitine supplementation could artificially increase or decrease the testing results.35,36,37 The CLSI suggested serial specimen collection whereby a first specimen is collected on admission to the NICU and a repeat specimen would be obtained during 48 to 72 hours of life if the first specimen was collected within the first day; for preterm newborns and NICUadmitted newborns with positive results, a final specimen is collected either at 28 days or at discharge, whichever comes first.38 Implementing the CLSI guidelines for premature newborns to interpret CAH screening results using the final specimen is very likely to yield different screening performance. Currently, California’s screening practice uses birth weight to stratify 17OHP cutoffs. In this study, we showed that the number of false positives in the earlycollection group across birth weight strata was small enough to not burden the system with extra followup. On implementation of the CLSI guidelines, many lowbirthweight newborns tested in NICUs would have their specimen collection postponed, resulting in a lower falsepositive rate. Furthermore, our experience and that of others in managing screening performance for MS/MS detectable metabolic conditions suggested that timely cutoff review and adjustment, including the addition of analyte ratios and adopting available new analytical technologies, are imperative to successfully control falsenegative and falsepositive results.39 Enhanced laboratory technologies, standards, and state regulations have led to improved sensitivity and specificity for the newborn screening of most genetic conditions. Blood specimens collected from 12 to 23 hours of life provide newborn screening programs satisfactory screening information with similar efficacy and efficiency compared to specimens collected from 24 to 48 hours, which is the current standard. Allowing blood collection as early as 12 hours of age could have benefits not only as a protocol for early postpartum discharge but also as an important factor to help accelerate the reporting of urgent positive results and improving the timeliness of diagnosis and treatment of affected newborns.

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Disclosure


The authors declare no conflict of interest.

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32. Goyal NK, Fager C, Lorch SA. Adherence to discharge guidelines for latepreterm newborns. Pediatrics 2011;128:62–71. 33. Galbraith AA, Egerter SA, Marchi KS, Chavez G, Braveman PA. Newborn early discharge revisited: are California newborns receiving recommended postnatal services? Pediatrics 2003;111:364–371. 34. Association of Public Health Laboratories. Update: suggested recommendations for timeliness in newborn screening. https://www.newsteps.org/n ewsandeducation/news/updatesuggestedrecommendationstimelinessnewbornscreening. Accessed 21 January 2015. 35. Chace DH, De Jesús VR, Lim TH, Hannon WH, Clark RH, Spitzer AR. Detection of TPN contamination of dried blood spots used in newborn and metabolic screening and its impact on quantitative measurement of amino acids. Clin Chim Acta 2011;412:1385–1390. 36. Slaughter JL, MeinzenDerr J, Rose SR, et al. The effects of gestational age and birth weight on falsepositive newbornscreening rates. Pediatrics 2010;126:910–916. 37. Oladipo OO, Weindel AL, Saunders AN, Dietzen DJ. Impact of premature birth and critical illness on neonatal range of plasma amino acid concentrations determined by LCMS/MS. Mol Genet Metab 2011;104:476–479. 38. CLSI. Newborn Screening for Preterm, Low Birth Weight, and Sick Newborns: Approved Guideline. CLSI document NBS03 A. Clinical and Laboratory Standards Institute: Wayne, PA, 2009. 39. Hall PL, Marquardt G, McHugh DM, et al. Postanalytical tools improve performance of newborn screening by tandem mass spectrometry. Genet Med 2014;16:889–895.

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Author information Affiliations Genetic Disease Screening Program, California Department of Public Health, Richmond, California, USA Hao Tang, Lisa Feuchtbaum, Partha Neogi, Thomson Ho, Leslie Gaffney & Robert J. Currier Corresponding author Correspondence to: Hao Tang

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Damaged goods?: an empirical cohort study of blood specimens collected 12 to 23 hours after birth in newborn screening in California : Genetics in Medicine : Springer Nature Genetics in Medicine

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